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Gene | FGFR3 |
Variant | E627D |
Impact List | missense |
Protein Effect | no effect |
Gene Variant Descriptions | FGFR3 E627D lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). E627D demonstrates autophosphorylation and substrate phosphorylation similar to wild-type Fgfr3 in cell culture (PMID: 26992226). |
Associated Drug Resistance | |
Category Variants Paths |
FGFR3 mutant FGFR3 E627D |
Transcript | NM_000142.5 |
gDNA | chr4:g.1806095G>C |
cDNA | c.1881G>C |
Protein | p.E627D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |